Carrier testing before pregnancy
Know if you or your partner are carriers of disease-causing mutations before pregnancy. Normally, a person carries two copies of each gene, one inherited from the male and one from the female. Carrier testing determines where vulnerabilities lie for known inherited recessive diseases. There are over 300 carrier tests available today and that number is rapidly increasing as more medical and scientific breakthroughs lead to the discovery of additional genetic mutations that can be linked to heritable diseases.
Some examples of carrier tests we include:
One in twenty nine Caucasians carry the gene mutation related to Cystic Fibrosis. Carriage of the mutation does occur in other populations, but far less frequently. The disease itself only manifests in a child when both parents carry the gene mutation. In those cases, there is a 25% chance of Cystic Fibrosis developing in the child. Genetic testing can aid, not only in predetermining risk before conception and birth, but also in confirming diagnoses in suspected cases, based on the parents' carrier status.
Genection offers a full testing menu for Cystic Fibrosis. Order Tests Now
Sickle Cell Anemia
African Americans and Hispanic Americans suffer the highest incidence of sickle cell anemia (1 in 625 and 1 in 1,000 respectively). The Genes for sickle cell anemia must be inherited from both parents for the disease to be present. If there is a family history of the disease, testing for carriage in both parents is strongly advised.
Genection offers a full testing menu for Sickle Cell Anemia. Order Tests Now
Anyone can be a carrier. In the United States, approximately 1 in 27 Jews carries the genetic mutation linked to the fatal disease known as Tay-Sachs. The mutation is most common in those of Eastern and Central European decent. Since the advent of genetic testing, the prevalence of the disease has gone down significantly as risk can be assessed in advance and genetic counseling provided in the event the gene mutation is present in both parents.
Genection offers a full testing menu for Tay-Sachs Disease. Order Tests Now